Asociación Colombiana de Médicos Genetistas (ACMGen), Cra. 7 #40-62 edificio 32, Chapinero, Bogotá D.C., Cundinamarca, Colombia.
Asociación Colombiana de Pacientes con Enfermedades de Depósito Lisosomal (ACOPEL), Bogotá D.C., Colombia.
Orphanet J Rare Dis. 2024 Nov 6;19(1):417. doi: 10.1186/s13023-024-03366-9.
Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is a progressive metabolic, genetic disease with wide clinical heterogeneity, ranging from perinatal lethality to mild or moderate localized symptoms. This study aims to analyze the perception of pain, quality of life, and access barriers to healthcare among patients diagnosed with hypophosphatasia in Colombia. In this document we present pain and quality of life results.
This study is an observational cohort of 18 HPP patients registered in the Colombian Association of Patients with Lysosomal Storage Diseases and Other Orphan Diseases (ACOPEL) database. We conducted a descriptive analysis using data from three questionnaires (SF-36, Brief Pain Questionnaire (BPQ), and Hypophosphatasia Impact Patient Survey (HIPS); the latter was translated into Spanish and validated for this study.
The most affected features, according to the SF-36 questionnaire, were overall health, vitality, and pain, with a median score above 67%. Patients' perception of their health status (HIPS questionnaire) was favorable, with 38.9% of cases reporting excellent health. On average, results from the BPQ indicated mild to moderate intensity of current pain experienced by patients. Consistency was observed in the reports of either the absence of pain or the presence of mild to moderate intensity when analyzing the results of the three questionnaires.
Colombian patients with HPP experience mild to moderate impairment in quality of life and pain that interfere with their daily activities. However, there is wide variability in the results obtained.
低磷酸酯酶症（HPP；OMIM 241510、241500 和 146300）是一种进行性代谢性遗传疾病，具有广泛的临床异质性，从围产期致死率到轻度或中度局部症状不等。本研究旨在分析哥伦比亚确诊低磷酸酯酶症患者的疼痛感知、生活质量和医疗保健获取障碍。在本文中，我们呈现了疼痛和生活质量的结果。
这是一项在哥伦比亚溶酶体贮积病和其他孤儿病患者协会（ACOPEL）数据库中登记的 18 名 HPP 患者的观察性队列研究。我们使用来自三个问卷（SF-36、简短疼痛问卷（BPQ）和低磷酸酯酶症患者影响调查（HIPS）的数据进行描述性分析；后者被翻译成西班牙语并经过本研究验证。
根据 SF-36 问卷，受影响最严重的特征是总体健康、活力和疼痛，中位数得分高于 67%。患者对自身健康状况的感知（HIPS 问卷）良好，38.9%的病例报告健康状况极佳。BPQ 的平均结果表明，患者当前疼痛的强度为轻度至中度。在分析三个问卷的结果时，无论是报告无疼痛还是轻度至中度疼痛，结果都具有一致性。
哥伦比亚 HPP 患者的生活质量和疼痛轻度至中度受损，这会干扰他们的日常活动。然而，结果存在很大的差异。
